Canonical Allele Identifier: CA292286062
Gene: BRIP1 HGNC NCBI

Linked Data

ClinVar Variation Id: 491400
dbSNP Id: rs1028347439

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.61801267G>A , CM000679.2:g.61801267G>A GRCh38
NC_000017.10:g.59878628G>A , CM000679.1:g.59878628G>A GRCh37
NC_000017.9:g.57233410G>A NCBI36
NG_007409.2:g.67293C>T , LRG_300:g.67293C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000579028.2:c.619C>T ENSP00000463827.2:p.Gln207Ter
ENST00000584322.2:c.1126C>T ENSP00000463272.2:p.Gln376Ter
ENST00000682066.1:c.619C>T ENSP00000507191.1:p.Gln207Ter
ENST00000682453.1:c.1126C>T ENSP00000506943.1:p.Gln376Ter
ENST00000682477.1:c.1126C>T ENSP00000507075.1:p.Gln376Ter
ENST00000682589.1:n.2867C>T
ENST00000682611.1:c.619C>T ENSP00000508326.1:p.Gln207Ter
ENST00000682755.1:c.919-1968C>T ENSP00000507660.1:n.919-1968C>T
ENST00000682989.1:c.1126C>T ENSP00000507786.1:p.Gln376Ter
ENST00000683039.1:c.1126C>T ENSP00000508303.1:p.Gln376Ter
ENST00000683235.1:c.1126C>T ENSP00000507646.1:p.Gln376Ter
ENST00000683381.1:c.1126C>T ENSP00000508184.1:p.Gln376Ter
ENST00000683692.1:c.704C>T ENSP00000507964.1:n.704C>T
ENST00000684584.1:c.619C>T ENSP00000508044.1:p.Gln207Ter
ENST00000259008.7:c.1126C>T MANE Select ENSP00000259008.2:p.Gln376Ter
ENST00000259008.6:c.1126C>T ENSP00000259008.2:p.Gln376Ter
ENST00000577598.5:c.1126C>T ENSP00000464654.1:p.Gln376Ter
NM_032043.2:c.1126C>T , LRG_300t1:c.1126C>T NP_114432.2:p.Gln376Ter
XM_011525332.1:c.1126C>T XP_011523634.1:p.Gln376Ter
XM_011525333.1:c.1126C>T XP_011523635.1:p.Gln376Ter
XM_011525334.1:c.1126C>T XP_011523636.1:p.Gln376Ter
XM_011525335.1:c.1126C>T XP_011523637.1:p.Gln376Ter
XM_011525336.1:c.1126C>T XP_011523638.1:p.Gln376Ter
XM_011525337.1:c.1126C>T XP_011523639.1:p.Gln376Ter
XM_011525338.1:c.643C>T XP_011523640.1:p.Gln215Ter
XM_011525339.1:c.1126C>T XP_011523641.1:p.Gln376Ter
XM_011525340.1:c.1126C>T XP_011523642.1:p.Gln376Ter
XM_011525341.1:c.1126C>T XP_011523643.1:p.Gln376Ter
XM_011525332.3:c.1126C>T XP_011523634.1:p.Gln376Ter
XM_011525333.3:c.1126C>T XP_011523635.1:p.Gln376Ter
XM_011525334.2:c.1126C>T XP_011523636.1:p.Gln376Ter
XM_011525335.3:c.1126C>T XP_011523637.1:p.Gln376Ter
XM_011525336.2:c.1126C>T XP_011523638.1:p.Gln376Ter
XM_011525337.2:c.1126C>T XP_011523639.1:p.Gln376Ter
XM_011525338.2:c.643C>T XP_011523640.1:p.Gln215Ter
XM_011525339.3:c.1126C>T XP_011523641.1:p.Gln376Ter
XM_011525340.3:c.1126C>T XP_011523642.1:p.Gln376Ter
XM_011525341.3:c.1126C>T XP_011523643.1:p.Gln376Ter
XM_017025200.1:c.643C>T XP_016880689.1:p.Gln215Ter
XM_017025201.1:c.583C>T XP_016880690.1:p.Gln195Ter
NM_032043.3:c.1126C>T MANE Select NP_114432.2:p.Gln376Ter